A5077952202- Oral microbiology and periodontitis research
- Down syndrome and intellectual disability research
- Dental Research and COVID-19
- Salivary Gland Disorders and Functions
- Cellular Mechanics and Interactions
- Virus-based gene therapy research
- Cell Adhesion Molecules Research
- RNA modifications and cancer
- Genetics and Neurodevelopmental Disorders
- Historical Studies of Medieval Iberia
- Gut microbiota and health
- Congenital heart defects research
- Ubiquitin and proteasome pathways
- RNA Interference and Gene Delivery
- RNA Research and Splicing
- Genomic variations and chromosomal abnormalities
- Cancer Research and Treatments
- Genomics and Chromatin Dynamics
- Dental Health and Care Utilization
- CAR-T cell therapy research
- Historical Art and Architecture Studies
- Cell Image Analysis Techniques
- Signaling Pathways in Disease
- melanin and skin pigmentation
- Pancreatic and Hepatic Oncology Research
Centre for Genomic Regulation
2003-2022
Universitat Pompeu Fabra
2016-2021
Centre for Biomedical Network Research on Rare Diseases
2008-2015
Centro de Investigación Biomédica en Red
2011-2015
Centro de Investigación Biomédica en Red de Cáncer
2012
Consorci Institut D'Investigacions Biomediques August Pi I Sunyer
2012
Barcelona Biomedical Research Park
2007-2011
Inserm
1999-2011
Université de Bourgogne
2011
Instituto de Investigación de Enfermedades Raras
2008
Legumes are the third largest family of angiosperms and second most important crop class. Legume genomes have been shaped by extensive large-scale gene duplications, including an approximately 58 million year old whole genome duplication shared legumes.
The oral cavity comprises a rich and diverse microbiome, which plays important roles in health disease. Previous studies have mostly focused on adult populations or very young children, whereas the adolescent microbiome remains poorly studied. Here, we used citizen science approach 16S profiling to assess of 1500 adolescents around Spain its relationships with lifestyle, diet, hygiene, socioeconomic environmental parameters.Our results provide detailed snapshot how it varies lifestyle other...
The relevance of the human oral microbiome to our understanding health has grown in recent years as studies continue develop. Given links cavity with digestive, respiratory and circulatory systems, composition is relevant beyond just health, impacting systemic processes across body. However, we still have a very limited about intrinsic extrinsic factors that shape healthy microbiome. Here, followed citizen-science approach assess relative impact on selected biological, social, lifestyle 1648...
DSCR1/ RCAN1 is a chromosome 21 gene found to be overexpressed in the brains of Down syndrome (DS) and postulated as good candidate contribute mental disability. However, even though Rcan1 knockout mice have pronounced spatial learning memory deficits, possible deleterious effects its overexpression DS are not well understood. We generated transgenic mouse model overexpressing DSCR1/RCAN1 brain analyzed effect on cognitive function. TgRCAN1 present marked disruption process visuo-spatial...
Down syndrome (DS) or trisomy 21 is the result of a genetic dosage imbalance that translates in broad clinical spectrum. A major challenge study DS identification functional elements with wide impact on phenotypic alterations. Recently, miRNAs have been recognized as contributors to several disease conditions by acting post-transcriptional regulators plethora genes. Five chromosome (HSA21) found overexpressed individuals and could function key pathophysiology. Interestingly, trisomic Ts65Dn...
Introduction: The oral cavity harbors an abundant and diverse microbial community (i.e. the microbiome), whose composition roles in health disease have been focus of intense research. Down syndrome (DS) is associated with particular characteristics cavity, a lower incidence caries higher periodontitis gingivitis compared to control populations. However, overall microbiome DS how it varies factors like host age or pH within mouth are still poorly understood. Methods: Using Citizen-Science...
Replication-competent adenoviruses armed with thymidine kinase (TK) combine the concepts of virotherapy and suicide gene therapy. Moreover TK-activity can be detected by noninvasive positron emission-computed tomography (PET) imaging, what could potentially facilitate virus monitoring in vivo. Here, we report generation a novel oncolytic adenovirus that incorporates Tat8-TK under control Major Late Promoter highly selective backbone thus providing selectivity targeting retinoblastoma...
Gene-based anticancer therapies delivered by adenoviruses are limited the poor viral distribution into tumor. In current work we have explored feasibility of targeting pancreatic tumors through a loco-regional route. We taken advantage ductal network in pancreas to retrogradelly inject common bile duct two different mouse models carcinogenesis: The transgenic Ela-myc mice that develop mixed neoplasms displaying both acinar-like and duct-like neoplastic cells affecting whole pancreas; bearing...
Introduction: Cystic fibrosis (CF) is an autosomal genetic disease, associated with the production of excessively thick mucosa and life-threatening chronic lung infections. The microbiota oral cavity can act as a reservoir or barrier for infectious microorganisms that colonize lungs. However, specific composition microbiome in CF poorly understood.Methods: In collaboration associations Spain, we collected rinse samples from 31 persons (age range 7-47) matched controls, then performed 16S...
We have identified VPS33B, the human ortholog of rat <i>Vps33b</i>. VPS33B encodes a transcript 2482 nt with an ORF 617 amino acids and predicted protein size 70.6 kDa. contains Sec-1 domain shared family proteins involved in sorting vesicular trafficking. Enriched expression was observed testis. positioned at chromosome 15q26.1 by radiation hybrid mapping.
Gene therapy is anticipated as being an important medical development. Essential to its effectiveness the appropriate activity (protein expression) in expected target cells. A noninvasive diagnostic procedure of successful gene expression will be paramount importance validate use or misuse (eg, sports doping). Externally detectable labeled oligonucleotide hybridizing with messenger RNA generated by transferred has been proposed a possibility monitor therapy. The authors selected...
Cardiologists are interested in determining whether the type of hospital pathway followed by a patient is predictive survival. The study objective was to determine accounting for pathways selection prognostic factors one‐year survival after acute myocardial infarction (AMI) provided more informative analysis than that obtained use standard regression tree (CART method). Information on AMI collected 1095 hospitalized patients over an 18‐month period. construction produced symbolic‐valued...
Wiskott-Aldrich syndrome (WAS) and X-linked thrombocytopenia (XLT) are rare genetic disorders caused by mutations of the protein (WASP) gene. Both clinically characterized chronic small platelets. WAS is a more severe form disorder also courses with eczema, immune dysfunction. In present study, we investigated two novel WASP gene in Spanish families patients diagnosed as having XLT WAS, respectively. one missense mutation exon 12 (1488A>G), resulting highly conserved glutamic residue...
Wiskott-Aldrich syndrome (WAS) is an X-linked immunodeficiency characterized by microthrombocytopenia, eczema, recurrent infections, autoimmune disorders and increased incidence of malignancies. This complex phenotype results from mutations in the WASP gene. a key member protein family that links signaling pathways to actin cytoskeleton reorganization activating Arp2/3-mediated polymerization. Actin polymerization defects have been extensively defined WAS T cells also dendritic macrophages,...